{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=666","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=664","results":[{"created":"2022-12-14T16:51:08.205286+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KARS as Red List (low evidence)","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-14T16:51:08.191172+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kars has been classified as Red List (Low Evidence).","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-14T16:50:59.425765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: KARS.","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-14T16:50:49.608868+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.\r\n\r\nThe deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.; to: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.\r\n\r\nThe deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.\r\n\r\nReviewed: significant uncertainty regarding outcome, exclude.","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-14T16:50:23.987216+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KARS: Changed rating: RED","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-14T16:46:29.779212+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GUSB.","entity_name":"GUSB","entity_type":"gene"},{"created":"2022-12-14T16:45:01.601338+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: RYR1.","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-12-14T16:44:39.533279+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with susceptibility to malignant hyperthermia.\r\n\r\nHowever, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.\r\n\r\nAssociation with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.\r\n\r\nMH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.\r\n \r\nThere is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).\r\n\r\nSurgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.\r\n\r\nMHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.\r\n\r\nDo not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).\r\n\r\nFor review.; to: Well established association with susceptibility to malignant hyperthermia.\r\n\r\nHowever, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.\r\n\r\nAssociation with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.\r\n\r\nMH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.\r\n \r\nThere is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).\r\n\r\nSurgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.\r\n\r\nMHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.\r\n\r\nDo not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).\r\n","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-12-14T16:43:54.005530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CACNA1S.","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2022-12-14T16:42:35.456609+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ADA2.\nTag treatable tag was added to gene: ADA2.\nTag immunological tag was added to gene: ADA2.","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-14T16:39:54.976291+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.\r\n\r\nOnset in early childhood.\r\n\r\nTreatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.\r\n\r\nPilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.\r\n\r\nFor review.; to: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.\r\n\r\nOnset in early childhood.\r\n\r\nTreatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.\r\n\r\nPilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.\r\n\r\nFor review. Discuss with neurology. Should we only report variants that are likely to benefit from treatment?","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:33:21.642106+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPRED1 as ready","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:33:21.629946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spred1 has been classified as Red List (Low Evidence).","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:32:52.358273+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1425","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SPRED1 were changed from Legius syndrome to Legius syndrome, MIM# 611431","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:32:43.614174+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1424","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SPRED1 as Red List (low evidence)","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:32:43.600540+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1424","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spred1 has been classified as Red List (Low Evidence).","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:32:27.887331+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1423","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPRED1","entity_type":"gene"},{"created":"2022-12-14T16:29:27.106101+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMD as ready","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:29:27.093105+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmd has been classified as Green List (High Evidence).","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:29:20.547856+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMD were changed from Becker muscular dystrophy; Duchenne muscular dystrophy, MIM#\t310200; Duchenne muscular dystrophy; Cardiomyopathy, dilated to Duchenne muscular dystrophy MIM#310200","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:29:05.639879+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DMD were set to ","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:28:54.027361+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMD as Green List (high evidence)","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:28:54.014067+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmd has been classified as Green List (High Evidence).","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:28:42.452099+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag neurological tag was added to gene: DMD.","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:28:30.249309+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 36278620, 36152336, 35562557, 35307847; Phenotypes: Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:22:25.497526+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC39A14.\nTag metabolic tag was added to gene: SLC39A14.","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2022-12-14T16:21:48.229048+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC30A10.\nTag metabolic tag was added to gene: SLC30A10.","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2022-12-14T16:21:05.776921+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: SLC35A2.","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-12-14T16:19:28.811439+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: SLC35C1.","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-12-14T16:18:55.673890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC39A7.\nTag treatable tag was added to gene: SLC39A7.\nTag immunological tag was added to gene: SLC39A7.","entity_name":"SLC39A7","entity_type":"gene"},{"created":"2022-12-14T16:18:38.635624+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A7","entity_type":"gene"},{"created":"2022-12-14T16:16:11.142490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC2A1.\nTag neurological tag was added to gene: SLC2A1.","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2022-12-14T16:15:57.788744+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2022-12-14T16:15:55.466569+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: DMD.","entity_name":"DMD","entity_type":"gene"},{"created":"2022-12-14T16:15:08.254323+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPR as ready","entity_name":"SPR","entity_type":"gene"},{"created":"2022-12-14T16:15:08.240124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spr has been classified as Green List (High Evidence).","entity_name":"SPR","entity_type":"gene"},{"created":"2022-12-14T16:15:01.806541+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1420","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SPR were changed from Sepiapterin reductase deficiency to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716","entity_name":"SPR","entity_type":"gene"},{"created":"2022-12-14T16:14:46.717519+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1419","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPR","entity_type":"gene"},{"created":"2022-12-14T16:12:30.261906+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC37A4.\nTag metabolic tag was added to gene: SLC37A4.","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-14T16:11:59.662978+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC39A4.\nTag metabolic tag was added to gene: SLC39A4.","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-14T16:11:27.597888+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC39A8.\nTag metabolic tag was added to gene: SLC39A8.","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-12-14T16:10:07.162693+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-14T16:10:04.020183+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1418","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPINK5 as ready","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:10:04.006235+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1418","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spink5 has been classified as Red List (Low Evidence).","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:10:00.388778+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1418","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SPINK5 were changed from Netherton syndrome 1; Netherton syndrome to Netherton syndrome MIM# 256500","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:09:56.119767+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: SLC3A1.\nTag treatable tag was added to gene: SLC3A1.\nTag renal tag was added to gene: SLC3A1.","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-14T16:09:52.209851+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1417","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SPINK5 as Red List (low evidence)","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:09:52.178340+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1417","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spink5 has been classified as Red List (Low Evidence).","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:09:41.105503+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-12-14T16:09:37.334671+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-14T16:07:53.165099+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPEG as ready","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-12-14T16:07:53.151204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Seb Lunke","item_type":"entity","text":"Gene: speg has been classified as Red List (Low Evidence).","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-12-14T16:07:21.803508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SPEG as Red List (low evidence)","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-12-14T16:07:21.790868+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1416","user_name":"Seb Lunke","item_type":"entity","text":"Gene: speg has been classified as Red List (Low Evidence).","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-12-14T16:07:08.902441+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1415","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-12-14T16:05:29.304855+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1415","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SP110 as ready","entity_name":"SP110","entity_type":"gene"},{"created":"2022-12-14T16:05:29.292597+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1415","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sp110 has been classified as Green List (High Evidence).","entity_name":"SP110","entity_type":"gene"},{"created":"2022-12-14T16:05:25.719823+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1415","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SP110 were changed from Hepatic venoocclusive disease with immunodeficiency to Hepatic veno-occlusive disease with immunodeficiency MIM#235550","entity_name":"SP110","entity_type":"gene"},{"created":"2022-12-14T16:05:07.148318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1414","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP110","entity_type":"gene"},{"created":"2022-12-14T16:03:15.250224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1414","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOX9 as ready","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:03:15.236077+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1414","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox9 has been classified as Red List (Low Evidence).","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:03:11.173024+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1414","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SOX9 were changed from Campomelic dysplasia to Campomelic dysplasia, MIM# 114290","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:03:00.247475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1413","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SOX9 as Red List (low evidence)","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:03:00.236512+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1413","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox9 has been classified as Red List (Low Evidence).","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:02:45.978884+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1412","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-12-14T16:01:14.152349+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1412","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOX10 as ready","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-12-14T16:01:14.137961+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1412","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox10 has been classified as Red List (Low Evidence).","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-12-14T16:01:10.364903+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1412","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SOX10 as Red List (low evidence)","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-12-14T16:01:10.353280+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1412","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox10 has been classified as Red List (Low Evidence).","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-12-14T16:00:58.163285+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1411","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-12-14T15:59:16.096603+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1411","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SNAP25 as ready","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:59:16.080590+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1411","user_name":"Seb Lunke","item_type":"entity","text":"Gene: snap25 has been classified as Red List (Low Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:59:11.190199+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1411","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SNAP25.","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:59:03.723840+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1411","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SNAP25 were changed from Myasthenic syndrome, congenital, 18, MIM# 616330 to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:58:55.285693+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1410","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SNAP25 were set to ","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:58:48.528289+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1409","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SNAP25 as Red List (low evidence)","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:58:48.515427+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1409","user_name":"Seb Lunke","item_type":"entity","text":"Gene: snap25 has been classified as Red List (Low Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:58:32.603643+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1408","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-12-14T15:51:33.015989+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1408","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMPX as ready","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:51:32.980485+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1408","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smpx has been classified as Red List (Low Evidence).","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:51:22.594833+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1408","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset, neuro-muscular disorder\r\n\r\nTreatment: no specific treatment available\r\n\r\nNon-genetic confirmatory test: not assessed; to: Established gene-disease association.\r\n\r\nChildhood onset, deafness\r\n\r\nTreatment: no specific treatment available\r\n\r\nNon-genetic confirmatory test: not assessed","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:51:01.949246+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1408","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SMPX were changed from Deafness, X-linked to Deafness, X-linked 4, MIM# 300066","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:50:46.718245+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1407","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SMPX as Red List (low evidence)","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:50:46.698917+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1407","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smpx has been classified as Red List (Low Evidence).","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:49:04.831000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1406","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SMPX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 4, MIM# 300066 Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-12-14T15:45:05.282666+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1406","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMPD1 as ready","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-12-14T15:45:05.269456+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1406","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smpd1 has been classified as Green List (High Evidence).","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-12-14T15:44:59.078486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1406","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B; Niemann-Pick disease, type A to Niemann-Pick disease, type A, MIM# 257200; Niemann-Pick disease, type B, MIM# 607616","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-12-14T15:44:51.565717+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1405","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SMPD1 were set to ","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-12-14T15:44:39.269516+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1404","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301544; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, Niemann-Pick disease, type B, MIM# 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-12-14T15:41:18.386465+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1404","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:41:18.372286+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1404","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smc1a has been classified as Red List (Low Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:41:13.859946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1404","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:41:06.205071+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1403","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SMC1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:40:37.107309+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1402","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SMC1A as Red List (low evidence)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:40:37.090697+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1402","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smc1a has been classified as Red List (Low Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T15:40:25.328590+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1401","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SMC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590, Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-12-14T13:48:11.933416+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC46A1.\nTag metabolic tag was added to gene: SLC46A1.","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-14T13:47:02.041261+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: SMAD3.","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-12-14T13:46:09.622384+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: SMARCAL1.","entity_name":"SMARCAL1","entity_type":"gene"}]}